Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypes.

Human molecular genetics - 1 Dec 2013

Sergeev Yuri V, Vitale Susan, Sieving Paul A, Vincent Ajoy, Robson Anthony G, Moore Anthony T, Webster Andrew R, Holder Graham E

Abstract excerpt

X-linked retinoschisis (XLRS) is a vitreo-retinal degeneration caused by mutations in the RS1 gene which encodes the protein retinoschisin (RS1), required for the structural and functional integrity of the retina. Data are presented from a group of 38 XLRS patients from Moorfields Eye Hospital (London, UK) who had one of 18 missense mutations in RS1. Patients were grouped based on mutation severity predicted by...

Read the complete abstract on PubMed

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cohort Studies
Share to Electroretinography
Share to Eye Proteins
Share to Mutation, Missense
Share to Protein Conformation
Share to Protein Stability
Share to Retina
Share to Retinoschisis

Source

Open in PubMed Open full text

Identifiers

PMID: 23847049
DOI: 10.1093/hmg/ddt329
PMCID: PMC3820135

Genes

ERG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypes.PMID 23847049Read ↗

Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis.Semantic proximity Read ↗

X-linked retinoschisis: mutation spectrum and genotype-phenotype relationship in an Italian pediatric cohort.Semantic proximity Read ↗

X-linked retinoschisis: RS1 mutation severity and age affect the ERG phenotype in a cohort of 68 affected male subjects.Semantic proximity Read ↗

Genotypic and phenotypic spectrum of X-linked retinoschisis in Australia.Semantic proximity Read ↗

Clinical and genetic features of retinoschisis in 120 families with RS1 mutations.Semantic proximity Read ↗

Genotypic and phenotypic diversity in X-linked retinoschisis: Findings from a South Indian patient cohort.Semantic proximity Read ↗

Genetic, morphological and electrophysiological findings in a patient with a rare pathogenic variant in the RS1 gene.Semantic proximity Read ↗

A Classification System Using Optical Coherence Tomography for X-linked Retinoschisis and Its Association with Genetic VariantsSemantic proximity Read ↗

Specific Changes in OCT Imaging Associated with a Novel Mutation of the RS1 Gene in X-Linked Retinoschisis.Semantic proximity Read ↗

Genotype and phenotype characteristics of X-linked retinoschisis: the first report of a Turkish population.Semantic proximity Read ↗

X-linked retinoschisis: clinical phenotype and RS1 genotype in 86 UK patientsSemantic proximity Read ↗

A novel gene mutation in a family with X-linked retinoschisis.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.